PURPOSE: Erectile dysfunction (ED) is a common male sexual dysfunction and affects the individual's physical and psychological well-being. It has been classified as organic and psychogenic. Men with low testosterone levels have an increased risk of ED. On the other hand, direct detrimental effect of metabolic syndrome on the endothelium, ...

The authors report on the case of a 24-year-old man who presented with back pain and radiculopathy due to epidural venous engorgement in the setting of a congenitally absent inferior vena cava. Despite initial improvement after steroid administration, the patient's health ultimately declined over a period of weeks, and signs ...

BACKGROUND: The action of secretory phospholipase A(2) (sPLA(2)) on lipoproteins may render them more susceptible to oxidation, thereby promoting vascular inflammation and increasing cardiovascular risk. Patients with acute coronary syndrome face a high risk of early, recurrent cardiovascular events that is associated with biomarkers of inflammation, including sPLA(2). The Vascular ...

Objectives: Fibromyalgia (FM) is characterized by widespread persistent pain and the presence of multiple discrete tender points. Chronic fatigue syndrome (CFS) is a syndrome characterized by debilitating fatigue associated with a variable number of nonspecific complaints. Since neither conditions had necessarily been recognized in children until recently, those patients have ...

To assess whether there are qualitatively deviant characteristics in the early vocalizations of children with Rett syndrome, we had 400 native Austrian-German speakers listen to audio recordings of vocalizations from typically developing girls and girls with Rett syndrome. The audio recordings were rated as (a) inconspicuous, (b) conspicuous or (c) ...

Antiphospholipid syndrome is an autoimmune disease which combines vascular thrombosis and/or pregnancy complications with the presence of antiphospholipid antibodies. It could be a devastating and sometimes life-threatening condition. As vascular thrombosis presents as typical venous or arterial thromboembolism diagnosis is based on laboratory data. Therefore proper performance and interpretation of ...

Antidiuretic hormone (ADH), or arginine vasopressin (AVP), is primarily regulated through plasma osmolarity, as well as non-osmotic stimuli including blood volume and stress. Links between water-electrolyte and carbohydrate metabolism have also been recently demonstrated. AVP acts via the intermediary of three types of receptors: V1a, or V1, which exerts vasoconstrictive ...

Although the cause of prune belly syndrome is unknown, familial evidence suggests a genetic component. Recently 2 nonfamilial cases of prune belly syndrome with chromosome 17q12 deletions encompassing the HNF1β gene have made this a candidate gene for prune belly syndrome. To date, there has been no large-scale screening of ...

The purpose of this article is to describe the use of three-dimensional sonography as an adjuvant to two-dimensional sonography facilitating an earlier and more definitive diagnosis of Jeune and Jeune-like syndromes in the second trimester. We report two cases in which three-dimensional sonography facilitated the diagnosis of these malformations. A ...

Mitochondrial diseases are increasingly being recognized as causes of encephalopathy and intractable epilepsy. There is no gold-standard test for diagnosing mitochondrial disease, and the current diagnosis relies on establishing a consistent pattern of evidence from clinical data, neuroimaging, tissue biopsy, and biochemical, genetic, and other investigations. Experience in the diagnosis ...

BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and renal anomalies or small kidneys, with or without Hirschsprung disease and cleft palate or cryptorchidism. This syndrome has only been reported in three male patients. Here, we report ...

Abstract The metabolic syndrome is a combination of metabolic and clinical features that aggregate in individuals and increase cardiovascular disease (CVD) risk considerably. It is believed, although sometimes controversially, that the underlying basis for this syndrome is insulin resistance (IR) and accompanying compensatory hyperinsulinemia. Insulin and insulin-like growth factors (IGFs) ...

Congenital myasthenic syndromes (CMS) are heterogeneous disorders in which the safety margin of neuromuscular transmission is compromised by one or more specific mechanisms. Clinical, electrophysiologic, and morphologic studies have paved the way for detecting CMS-related mutations in proteins residing in the nerve terminal, the synaptic basal lamina, and in the ...

Neuroleptic malignant syndrome (NMS) is a rare disorder which is clinically similar to malignant hyperthermia (MH). It is characterized by hyperthermia, autonomic instability, muscle rigidity, coma, rhabdomyolysis, and acidosis. Without immediate and appropriate therapy, mortality may result. NMS is associated with administration of antipsychotic medications, anti-emetic medications, and changes in ...

There is a paucity of prospective data on flexible bronchoscopy with rapid on-site evaluation (ROSE) in the setting of superior vena cava (SVC) syndrome. The aims of this prospective study were to assess the diagnostic yield and safety of these investigations and specifically to evaluate the role of ROSE in ...

Aim: To determine the incidence of recurrent empty follicle syndrome (EFS) and to analyse the factors associated with this phenomenon. Methods: Retrospective analysis comparing all EFS cycles with cycles in which oocytes were retrieved in our in vitro fertilization (IVF) unit between 1998 and 2006. Results: Of 8292 IVF cycles, ...

There are limited reports of thrombosis among myelodysplastic syndrome patients exposed to erythropoiesis stimulating agents. It is not clear whether erythropoiesis stimulating agents are associated with an increased risk of thrombosis in myelodysplastic syndromes, as they are among patients with solid tumors. The association between use of erythropoiesis stimulating agent ...

Src kinase is reported to regulate neuronal nicotinic acetylcholine receptor activity, which is among the principal receptor systems acted upon by nicotine. Src kinase is documented to mediate the pathogenesis of substance dependence. Therefore, the present study has been designed to investigate the effect of SU-6656, selective src kinase inhibitor, ...

OBJECTIVES/HYPOTHESIS: Munchausen's syndrome (MS) is a form of severe, chronic, factitious disorder with physical symptoms. Some essential features define MS, such as recurrent, feigned, or simulated illness; peregrination (traveling or wandering); pseudologia fantastica; and drug abuse. Munchausen's syndrome by proxy (MSBP) classically involves a parent or other caregiver who inflicts ...

Recently, it was reported that remitting seronegative symmetrical synovitis with pitting edema (RS3PE) syndrome could be complicated with solid tumors. In a retrospective, multicenter study between October, 2003 and September, 2010, we investigated the characteristics of patients with paraneoplastic RS3PE syndrome who fulfilled following criteria: (1) bilateral pitting edema of ...

Central sensitivity syndromes (CSS) include fibromyalgia syndrome (FMS), irritable bowel syndrome, temporomandibular disorder, restless legs syndrome, chronic fatigue syndrome, and other similar chronic painful conditions that are based on central sensitization (CS). CSS are mutually associated. In this paper, prevalence of FMS among other members of CSS has been described. ...

While a great deal of research has been conducted on prodromal risk syndromes in relation to help-seeking individuals who present to the clinic, there is a lack of research on prodromal risk syndromes in the general population. The current study aimed first to establish whether prodromal risk syndromes could be ...

Dravet syndrome, characterized predominantly by myoclonus, has a striking clinical resemblance to subacute sclerosing panencephalitis (SSPE). Patients with Dravet syndrome develop significant mental decline with advancing age of affected child like in SSPE. It is well established that SCN1A gene mutations are associated with Dravet syndrome. Even periodic EEG complexes ...

There has been increasing interest on the so-called cardiorenal syndrome (CRS), defined as a complex pathophysiological disorder of the heart and kidneys whereby acute or chronic dysfunction in one organ may induce acute or chronic dysfunction in the other. In this review, we contend that there is lack of evidence ...

We present two pediatric patients with pityriasis lichenoides et varioliformis acuta fulminans whose admitting diagnosis was Stevens Johnson Syndrome. The patients were successfully treated with methotrexate and prednisone. These cases highlight the importance of early recognition and treatment of this disease to prevent further morbidity and a potentially fatal ...

OBJECTIVES: To examine the relationship between urinary pH and metabolic syndrome risk factors along with insulin resistance in obese adolescents, and to evaluate the relationship between other urinary stone-forming and -inhibiting markers and metabolic syndrome. STUDY DESIGN: A total of 46 obese adolescents were enrolled. Twenty-four hour and randomly obtained ...

Behavioural consistency or predictability through time and/or different contexts ('syndromes' or 'personality types') is likely to have substantial influence on animal life histories and fitness. Consequently, there is much interest in the forces driving and maintaining various syndromes. Individual host behaviours have been associated with susceptibility to parasitism, yet the ...

ABSTRACT: Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by arterial and venous thrombotic events associated with antiphospholipid antibodies. Antiphospholipid syndrome is commonly seen with collagen vascular diseases; however, other entities that can cause APS include chronic viral infections, certain medications, and malignancies. We present an interesting patient with an ...

The objectives of this study were to investigate the treatment effect and stability of fronto-facial monobloc distraction osteogenesis. Five consecutive patients who underwent monobloc distraction were included (aged 4.8-18.4 years). Three patients had Crouzon syndrome, one had Apert syndrome, and one had Pfeiffer syndrome. The evaluation included clinical records, serial ...

Emerging science supports therapeutic roles of strawberries, blueberries and cranberries in the metabolic syndrome, a pre-diabetic state characterized by several cardiovascular risk factors. Interventional studies reported by our group and others have demonstrated the following effects: strawberries lowering total and LDL-cholesterol, but not triglycerides, and decreasing surrogate biomarkers of atherosclerosis ...

We report a 48-year-old woman with manifest Wolff-Parkinson-White (WPW) syndrome and a long QT interval in her electrocardiogram, who represented the marked prolongation of QT interval after the successful catheter ablation for the accessory pathway. The increase in QT interval was completely restored to the baseline level 2 days after ...

Background: Primary nephrotic syndrome is a common renal problem in pediatrics, with great variation in patients' characteristics in different regions of the world. The aim of this study was to define these characteristics in Egyptian children with primary nephrotic syndrome. Methods: Records of 100 primary nephrotic syndrome patients were retrospectively ...

Hutchinson-Gilford progeria syndrome is a rare, segmental premature aging syndrome of accelerated atherosclerosis and early death from myocardial infarction or stroke. This study sought to establish comprehensive characterization of the fatal vasculopathy in Hutchinson-Gilford progeria syndrome and its relevance to normal aging. We performed cardiovascular assessments at a single clinical ...

PURPOSE OF REVIEW: The spectrum of periodic fever syndromes (PFS)/autoinflammation diseases is continuously expanding. This review provides an overview of the primary research and an update on the main clinical developments in these disorders published in the past 12-18 months. RECENT FINDINGS: IL-1β is pivotal to the pathogenesis of most ...

ABSTRACT: Bálint syndrome (simultagnosia, optic ataxia, and ocular apraxia) is typically caused by pathology affecting the parietal-occipital regions bilaterally. Visual allochiria is an uncommonly reported symptom associated with parietal lobe pathology in which visual stimuli presented to one hemispace are transposed to the opposite side. We describe a patient with ...

During the past two decades, the use of antiplatelet therapies has been the focus of new studies of secondary prevention after acute coronary syndromes, with more than 75% of patients in contemporary practice treated with dual antiplatelet therapy (aspirin plus a thienopyridine) on hospital discharge.(1) Despite increases in the use ...

BACKGROUND: A case of mesocavoatrial shunting for the treatment of Budd-Chiari syndrome (BCS) with long-term follow-up is reported. METHODS: A 25-year-old man with stage II BCS was treated with a mesocavoatrial shunt to decompress the portal and IVC hypertension. During the 6-year follow-up, the patient was able to resume work ...

Mirror Syndrome (MS) is a rare condition that involves foetal hydrops, placentomegaly and severe maternal oedema. The pathogenesis of this syndrome mimics endothelial dysfunction observed in pre-eclampsia. We report a case of maternal MS caused by bilateral fetal hydrothorax that resolved after intrautero pleuroamniotic shunt placement. At the time of ...

This is the first report of 2 patients presenting with short-lasting unilateral neuralgiform headache with autonomic symptoms as the initial manifestation of idiopathic hypertrophic cranial pachymeningitis. They both had acute retro-orbital pain ipsilateral to the dural thickening on magnetic resonance imaging of brain, and one had transient miosis as an ...

Deep-vein thrombosis (DVT) can have a significant impact on a patient's life. In particular, the development of post-thrombotic syndrome as a long-term complication of DVT can have devastating consequences for the individual and impose a substantial economic burden on healthcare systems. Anticoagulants are the mainstay of DVT treatment; however, the ...

The metabolic syndrome shows a variable prevalence in obstructive sleep apnoea (OSA), and its association with insulin resistance or excessive daytime sleepiness in OSA is unclear. This study assessed the following in consecutive patients with newly diagnosed OSA: 1) the prevalence of metabolic syndrome; and 2) its association with insulin ...

McCune-Albright Syndrome (MAS) is a congenital endocrine disorder due to mosaic tissutal hyper-function. We describe a boy with a molecularly confirmed MAS, clinically evident with congenital café-au-lait spots, bone fibrous dysplasia, hyperthyroidism, and renal phosphate wasting syndrome. At 4.6 years of age he disclosed a rapid progression of peripheral puberty, ...

Tourette syndrome is a hereditary, childhood-onset neurodevelopmental disorder that was first clearly described in France in 1885. This disorder is characterized by sudden, rapid, recurrent, nonrhythmic movements (motor tics) or sounds (vocal or phonic tics), often preceded by premonitory sensations or urges. Some individuals also have psychiatric comorbidities, notably attention-deficit ...

Polycystic ovary syndrome (PCOS) is a frequent heterogenic disorder with a familial background. Androgenic effects, determining the clinical features of the syndrome, are mediated by the androgen receptor (AR), whose activity is modulated by a genetic polymorphism. We investigated the role of the CAG repeat polymorphism of the androgen receptor ...

ABSTRACT: Achille Louis Foville's Atlas of Brain Anatomy (1844) is one of the most artistic and detailed works on neuroanatomy in the medical literature. The outstanding drawings by the two artists, Emile Beau and Frédéric-Michel Bion, highlight all the philosophy, ability and sensibility of A. L. Foville in carefully dissecting ...

Abstract Background: Metabolic syndrome is associated with an increased risk of major cardiovascular events. Decreased high-molecular-weight (HMW) adiponectin levels are associated with metabolic syndrome and its components. Changes in γ-glutamyl transferase (GGT) levels are also associated with metabolic syndrome and could be modulated by HMW adiponectin. Methods: From a single ...